|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3008
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
H1.4 linker histone, cluster member |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
H1-4 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
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H1.4, H1E, H1F4, H1s-4, HIST1H1E, RMNS, dJ221C16.5 |
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Chromosome
Chromosome number
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6 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p22.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
|
Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in |
| UniProt ID |
P10412
|
| Protein name |
Histone H1.4 (Histone H1b) (Histone H1s-4) |
| Protein function |
Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Also acts as a |
| PDB |
3TZD
,
5JJZ
,
6H8P
,
7K5Y
,
7K63
,
7PET
,
7PEU
,
7PEX
,
7PEZ
,
7PF0
,
7PF2
,
7PF3
,
7PF5
,
7PF6
,
7PFA
,
7PFC
,
7PFD
,
7PFE
,
7PFT
,
7PFU
,
7PFV
,
7PFW
,
7PFX
,
8H1T
,
8VG2
,
9DDE
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF00538
|
Linker_histone |
37 → 108 |
linker histone H1 and H5 family |
Domain |
|
| Sequence |
|
| Sequence length |
219 |
| Interactions |
View interactions
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| RAHMAN SYNDROME |
rahman syndrome |
rs1581429431, rs1581429434, rs1581429514, rs1131690805, rs1581429554, rs1131690806, rs1131690807, rs1764194669, rs1554162872, rs1554162894, rs1581429395, rs1581429403 |
N/A |
| Auditory neuropathy |
auditory neuropathy spectrum disorder |
rs1131690806 |
N/A |
| Multiple myeloma |
multiple myeloma |
rs951047896 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Mental retardation |
syndromic intellectual disability |
N/A |
N/A |
GenCC |
|